Shalini N Kedia, Founder Member and Chairperson, The Fragile X Society India, in a chat with Mansha Gagneja, expounds on the need to create awareness for Fragile X and highlights the various treatment options available to manage it
Give us an overview of the current prevalence of Fragile X syndrome in the country?
India has over 4, 00,000 affected children. If one considers, Fragile X Syndrome (FXS) and its associated disorders, it increases to 40 lakhs. It is a very huge number.
FXS is a rare disorder. It is caused by a change in a gene that is inherited at the time of conception. When the gene called the FMR1, found in the X chromosome undergoes a change and does not function properly, it affects brain functions. It causes a wide range of cognitive impairment, from mild learning disabilities to severe intellectual disabilities (ID) that can impact individuals and families in various ways.
There are, organisations all over the world focussed on creating awareness for Fragile X. Nearly every state in the US has a Fragile X society working towards this goal. Approximately 1 in 3,600 to 4000 among males and 1 in 4000 to 6000 among females are affected by FXS. Usually, males are more severely affected by this disorder than females. Therefore it is vital to spread awareness among the medical fraternity especially pediatricians and gynecologists’ as well as parents and the couples planning to have a child, so that children with FXS are detected early in life. Due to advancement in medical sciences, there are many treatments like medication and therapies available at different centers, which significantly improve the quality of life of a child or an individual affected with FXS.
What is the extent of awareness amongst practitioners regarding this syndrome?
The awareness levels in India with respect to other countries are considerably low. However, over the years, with the efforts of The Fragile X Society, India, the awareness level in India has increased considerably and as a result parents of affected individuals are taking them to centers for medications and therapies. In the past, in countries like the US, toddlers at the age of 36 to 42 months were detected with FXS, whereas children in India were diagnosed at ages of 10 years, 12 years, 16years or even 40years. Thus, it led to a huge gap in their treatment cycle. Today it is different. The youngest Fragile X affected child we have seen was just one year old. This has happened only because of awareness amongst professionals.
What are the different diagnosis and treatments options available for the Fragile X syndrome globally? How are they positioned in the Indian Fragile X Syndrome market?
FXS cannot be cured. However, there are many treatments available. These include therapies, behaviour modification and medications to reduce the symptoms. Medications are not expensive and there are many centres which provide therapies at subsidised rates for those who come from a lower economic back ground. Early intervention makes a huge difference to the prognosis of the child. As the researchers gain newer insights into the syndrome and its connected connections, the treatments for the same are evolving too. With the rising awareness in India one can say that we have excellent treatments for children affected. The professionals in India work very hard to provide the families with the best available care.
Brief us about the importance of pre-natal tests?
Pre-natal tests are important for early diagnosis and treatment of FXS and its associated disorders in the unborn child. There are two different methods to evaluate the genetic status of the fetus; Amniocentesis and Chorionic villus sampling (CVS). They both use fluid and/or tissue that is made up of fetal cells and the fetal DNA is analysed in the cells obtained from the procedure.
Amniocentesis
Amniocentesis uses a small (two tablespoons) sample of the amniotic fluid that surrounds the fetus. This fluid has fetal cells that can be grown and studied for various genetic conditions. The procedure is usually performed between 15 and 20 weeks of gestation, which is determined by ultrasound (sonogram) and /or by the first day of the last menstrual period. With the ultrasound affording a view of the womb, the physician inserts a very thin needle through the abdomen to withdraw the fluid from the uterus. The risks of the procedure include miscarriage, bleeding, cramping, and amniotic fluid leakage. The risk for miscarriage is approximately 1 in 300.
Chorionic villus sampling (CVS)
Chorionic villus sampling involved obtaining a small sample from the developing placenta. The placenta contains genetic material that is of fetal origin. Chorionic villi are small finger like projections on the edge of the placenta. The cells can be studied for chromosome abnormalities such as Down syndrome and FXS, if the mother is a known carrier.
Unlike amniocentesis, CVS does not detect neural tube defects such as spina bifida. A blood test is therefore recommended at 15 to 20 weeks gestation to detect neural tube defects. CVS is performed earlier in pregnancy than amniocentesis, usually between 10 to13 weeks of gestation. The procedure is performed under ultrasound guidance. Some women feel cramping or pressure, while others do not find it uncomfortable. Like amniocentesis, there is a small risk of miscarriage (less than 1 per cent). If performed earlier than 10 weeks’ gestation, there is an associated risk of limb defects.
Why has the Indian Academy of Pediatrics (IAP) come forward to support the cause?
The Indian Academy of Pediatrics (IAP), has extended their support to The Fragile X Society, India to take forward the motto of a better FXS care among the affected individuals in every nook and corner of India. They feel that awareness needs to be increased in India as far as FXS and its associated disorders are concerned. Cases of FXS and its associated disorders are mostly not reported in India. Therefore, the IAP is preparing guidelines for management of the syndrome, as it is necessary to create awareness among the doctors who will manage the children or individuals affected with FXS and its associated disorders. It is therefore vital to utilise the knowledge gathered from the guidelines so that it can be used for early and better diagnosis of the syndrome and plan its treatment accordingly.